Clinical Genomics Report

Sample: PROPER_VEP_TEST

VCF Type: vep_annotated

Report Date: 2025-07-06 00:15

Pipeline: Rare Disease Variant Prioritization v2.0

Executive Summary

3

High Priority Variants

0

Medium Priority Variants

0

Low Priority Variants

3

Total Variants

Clinical Interpretation

3 high-priority variant(s) identified requiring follow-up.
Recommend further validation and clinical correlation.

Top 20 Prioritized Variants

CHROM POS REF ALT SYMBOL Consequence gnomAD_AF CADD_PHRED REVEL CLIN_SIG pathogenicity_score priority_score
0 17 43044295 G A BRCA1 stop_gained NaN NaN NaN Pathogenic 10.0 19.0
1 1 230710048 A G AGT missense_variant NaN NaN NaN Pathogenic 10.0 17.0
2 17 43045677 C T BRCA1 missense_variant NaN NaN NaN Likely_pathogenic 8.0 15.0

This report is for research purposes. Clinical decisions should involve genetic counseling.